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Publications

Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report. - Journal of clinical and diagnostic research : JCDR

Seizures coexists in children with intellectual disability and are often attributed to neural dysfunction associated with it. Often a careful clinical examination will unravel many diagnostic pointers as in this 8-year-old child with global development delay, deaf-mutism and moderate intellectual disability (mental retardation) who presented with seizures in the emergency department. General examination revealed dysmorphic features like anonychia, low set ears, long philtrum, large lower lips and abnormal dermatoglyphics with features of osteodystrophy on radiology. She was diagnosed as a case of DOORS syndrome, an extremely rare genetic condition affecting the TCA cycle, with just over 40 cases reported, worldwide till date, since its first description in 1961. Her genetic analysis did not reveal the common TBC1D24 mutation in 16p13.3 resulting often from substitutions affecting the arginine at position 242, in spite of all classical clinical features associated with it, suggesting genetic heterogeneity in DOORS syndrome. Though four year follow-up revealed changes in seizure pattern, there was no optic atrophy, change in IQ or peripheral nerve problem. This probably suggests that children with typical clinical features and TBC1D24 mutations may have more progressive deterioration than those without it and newer molecular techniques may identify unexplained phenotypic expressions.

Use of Opioids and Sedatives at End-of-Life. - Indian journal of palliative care

Despite their proven efficacy and safety, opioid and sedative use for palliation in patients afflicted with cancer in Singapore have been shown to be a fraction of that in other countries. This paper explores the various psychosocial and system-related factors that appear to propagate this conservative approach to care in what is largely a western-influenced care practice. A search for publications relating to sedative and opioid usage in Asia was performed on PubMed, Google, Google Scholar, World Health Organization, and Singapore's government agency websites using search terms such as "opioids," "sedatives," "palliation," "end-of-life-care," "pain management," "palliative care," "cancer pain," "Asia," "Singapore," and "morphine." Findings were classified into three broad groups - system-related, physician-related, and patient-related factors. A cautious medico-legal climate, shortage of physicians trained in palliative care, and lack of instruments for symptom assessment of patients at the end of life contribute to system-related barriers. Physician-related barriers include delayed access to palliative care due to late referrals, knowledge deficits in non-palliative medicine physicians, and sub-optimal care provided by palliative physicians. Patients' under-reporting of symptoms and fear of addiction, tolerance, and side effects of opioids and sedatives may lead to conservative opioid use in palliative care as well. System-related, physician-related, and patient-related factors play crucial roles in steering the management of palliative patients. Addressing and increasing the awareness of these factors may help ensure patients receive adequate relief and control of distressing symptoms.

Incontinence in Intellectual Disability: An Under Recognized Cause. - Journal of clinical and diagnostic research : JCDR

Many children with Down syndrome may develop urinary incontinence during adolescence or nearing adulthood. Most often low mental ability, behavioural issues, urinary tract infection, hypothyroidism, atlanto-axial subluxation or sexual abuse may be suspected to be the reason. We report a case of Down syndrome with tethered cord syndrome (TCS) and Lipoma of Filum terminale with Cauda equina in normal position, as a cause of bowel and bladder incontinence. The need for operating with Cauda Equina in normal position is debated. But a conscious decision was taken to operate and the incontinence improved markedly which was documented by using a standardized questionnaire (King's questionnaire) and thereby making a difference in the child's life. A literature search did not result in any case of Down syndrome with tethered cord syndrome and secondary incontinence as presentation. Considering the possibility of TCS as a cause of incontinence, often neglected even in normal children, careful evaluation and correction of such problems will make a difference in the life of many intellectually disabled children. Incontinence should not be casually attributed to intellectual disability without ruling out other causes.

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